Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.P645delFs
Back to variants list

COL7A1

NM_000094.4:p.P645delFs

Associated Papers

Combinatorial Omics Analysis Reveals Perturbed Lysosomal Homeostasis in Collagen VII-deficient Keratinocytes.

Thriene K et al.

Molecular & Cellular Proteomics : Mcp, 2018

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

Dang N et al.

Experimental Dermatology, 2008

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

Kern JS et al.

The Journal of Investigative Dermatology, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."